Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.
J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10.
The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated (1)H-MRS and neuropsychological assessments during 4-6 years of combination treatment with creatine monohydrate, L-arginine, and glycine. Treatment did not lead to a significant increase in cerebral creatine content as observed with H(1)-MRS. After an initial improvement in locomotor and personal-social IQ subscales, no lasting clinical improvement was recorded. Additionally, we noticed an age-related decline in IQ subscales in boys affected with the CRTR defect.
肌酸转运蛋白（CRTR）缺陷是一种新发现的伴 X 连锁智力障碍的病因，目前已经探索了多种治疗方法。肌酸单药治疗效果不佳，而精氨酸治疗的效果仍存在争议。我们对 9 名分子确诊为 CRTR 缺陷的男孩进行了随访，这些男孩的年龄在 8 个月至 10 岁之间，在 4-6 年的时间里接受了肌酸一水合物、精氨酸和甘氨酸联合治疗，并进行了多次（1）H-MRS 和神经心理学评估。治疗并没有像 H（1）-MRS 观察到的那样，导致大脑肌酸含量的显著增加。在运动和个人-社会智商子量表最初有所改善后，没有记录到持续的临床改善。此外，我们还注意到受 CRTR 缺陷影响的男孩的智商子量表随年龄增长而下降。
